Penile squamous cell carcinoma in neurofibromatosis type 1 (NF1): RAS-pathway mechanisms and management — A case report
Babak Javanmard, Sina Samenezhad, Dorna Rafighi, Lena yaghoubpour, nasim Dehghan
TL;DR
A rare case of penile cancer in a man with neurofibromatosis type 1 highlights a possible link to RAS pathway issues and the importance of early diagnosis.
Contribution
This case report suggests a potential connection between NF1 and epithelial cancers via RAS/MAPK dysregulation.
Findings
A 65-year-old man with NF1 developed penile squamous cell carcinoma invading the corpus spongiosum.
Radical penectomy achieved clear margins with no metastasis detected.
The case supports the need for prompt biopsy and molecular profiling in NF1 patients with suspicious genital lesions.
Abstract
Neurofibromatosis type 1 (NF1) predisposes to neural and occasionally epithelial malignancies. We report a 65-year-old man with NF1 who presented with urethral obstruction, meatal discharge, and glans swelling. Imaging identified a 22 × 25 mm hypervascular penile lesion invading the corpus spongiosum and anterior urethra. Biopsy confirmed well-differentiated squamous cell carcinoma. Staging showed no distant disease; inguinal FNA was negative. He underwent radical penectomy with perineal urethrostomy; margins were clear, and recovery was uneventful. This rare occurrence highlights RAS-pathway plausibility, supports prompt biopsy of changing genital lesions in NF1, and recommends HPV testing, molecular profiling, and multidisciplinary follow-up. •Penile squamous cell carcinoma (SCC) in neurofibromatosis type 1 (NF1) is extremely uncommon, suggesting a possible link between NF1 and…
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Taxonomy
TopicsNeurofibromatosis and Schwannoma Cases · Urinary and Genital Oncology Studies · Genital Health and Disease